the effect and mechanism of gene variation on neonatal hyperbilirubinemia

Conditions: Neonatal Hyperbilirubinemia

Summary: neonatal hyperbilirubinemia ( nhb ) has many causes and is difficult to diagnose, and genetic factors play an important role in the metabolism of bilirubin. however, there is no literature report on the correlation between jaundice gene polymorphism and clinical manifestation polymorphism in big data population. this project intends to conduct a prospective observational study led by the department of pediatrics of the sixth affiliated hospital of sun yat-sen university and in conjunction with a multi-center cooperative hospital : ( 1 ) a total of 2,000 nhb neonatal dry blood spot samples were included for 24 genetic screening tests for 29 nhb-related genetic diseases. the construction of the gene database was completed and the carrying and pathogenicity of nhb-related genes in the population was analyzed to provide a scientific basis for the selection of mutation sites for large-scale nhb gene screening ; ( 2 ) collect neonatal clinical data and percutaneous bilirubin levels through the hospital inpatient system and the ' percutaneous jaundice meter home monitoring + software doctor-patient interconnection ' method, complete the construction of the intelligent nhb clinical database, and analyze the impact of jaundice-related genes on nhb ; ( 3 ) integrated analysis to understand the differences in the carrying rate of pathogenic genes in different degrees and special types of jaundice, and to explore the differences in the degree of jaundice carrying single or multiple jaundice pathogenic genes. this study will evaluate the feasibility of jaundice gene screening program in the detection of jaundice-related inherited metabolic diseases, and provide a basis for early treatment and prevention of nhb.

adverse reactions: in this study, only 3 drops of neonatal heel peripheral blood were collected for genetic analysis and statistical analysis of percutaneous jaundice values. no human trials were involved. family members were willing to know the genetic test results and the genetic test results were positive. family members may have a certain psychological burden. we will provide free professional genetic counseling, as detailed as possible to inform the hazards of this genetic defect, treatment and other related information to help. psychiatrists can be arranged for free psychological counseling if necessary. ethical approval: this clinical study follows the helsinki declaration ( 2013 edition ), the ethical principles of human medical research and the relevant clinical research norms and regulations in china. this clinical study was approved by the research ethics committee / institutional review boards ( rec/irbs ). this clinical study is an observational clinical study initiated by researchers. the clinical research protocol ( including informed consent and case report forms, etc. ) and other information provided to the family members or guardians of the newborn were reviewed and approved by the ethics committee of the clinical research team leader unit and the participating units. informed consent: before the start of the clinical study, the researchers completely and comprehensively introduced the purpose, process, method, and the interests and risks of the newborn to the parents or legal representatives who met the inclusion criteria. a written informed consent form was given to each parent or guardian of the newborn before enrollment, so that he / she had sufficient time to consider whether to consent to the collection of neonatal information to participate in this clinical study. after obtaining the informed consent of each newborn 's parent or legal representative and signing the informed consent form, researchers can begin to collect relevant data. privacy protection: all members of the research team, including the primary researchers and their authorized researchers, must comply with all local and regional regulatory requirements and applicable privacy regulations. each newborn participating in this study will be assigned a unique number and an institutional identifier. all research data will be stored in a confidential electronic system and stored for at least 3 years after the completion of the study. the coding table for recording neonatal information and research will be kept by the researcher (pi) in a locked file cabinet or in a password-protected database. only researchers and their authorized researchers have the right to access the coding table. the coding table that records the name of the hospital and the institution identification number will be saved by the research team in a locked file cabinet, which is only limited to access by limited research members. the identity of each subject of observation should be kept confidential in research reports and related publications.

Eligibility criteria:
inclusion criteria: * age 1-28 days * gestational age ≥ 35 weeks * birth weight ≥ 2.5 kg and \< 4 kg. exclusion criteria: * neonatal data with unclear clinical basic information ; * lack of traceability core information data ; * data that the test results cannot be analyzed and interpreted ; * sample collection is not qualified and unwilling to cooperate with re-sampling. * newborns with severe deformity and severe lethal inherited metabolic diseases